Results 201 to 210 of about 14,149 (242)

The Beckwith-Wiedemann Syndrome

Archives of Pediatrics & Adolescent Medicine, 1971
An infant boy with the typical physical findings of the Beckwith-Wiedemann syndrome but without hypoglycemia is reported. Complete evaluation of endocrine, renal, and hepatic functions in this patient at 4½ months and 15 months of age revealed no significant abnormality.
A P, Eaton, W F, Maurer
openaire   +2 more sources

Prenatal molecular testing and diagnosis of Beckwith‐Wiedemann syndrome

Prenatal Diagnosis, 2021
The objective of this study was to describe molecular findings and phenotypic features among individuals referred for prenatal Beckwith‐Wiedemann syndrome (BWS) testing.
Samuel W. Baker, Elyse Ryan, J. Kalish, A. Ganguly   +3 more
semanticscholar   +1 more source

Beckwith–Wiedemann Syndrome

2012
Literature review current through: May 2017. This topic last updated: Feb 08, 2016.
Weksberg, R, Choufani, S, Shuman, C, Chung, BHY   +3 more
openaire   +4 more sources

Beckwith-Wiedemann-Syndrom

Medizinische Genetik, 2010
ZusammenfassungDas Beckwith-Wiedemann-Syndrom (BWS) ist ein pädiatrisches Überwuchssyndrom mit variablem klinischem Erscheinungsbild. Obwohl die betroffenen Kinder mit zunehmendem Alter immer normaler aussehen, ist es wichtig, die Diagnose BWS zu stellen.
D. Prawitt, T. Enklaar, B. Zabel
openaire   +1 more source

Tongue reduction in Beckwith-Wiedemann syndrome: outcome and treatment algorithm.

International Journal of Oral & Maxillofacial Surgery, 2019
Beckwith-Wiedemann syndrome is a rare congenital overgrowth disorder with macroglossia being one of the cardinal symptoms. In pronounced cases, macroglossia can lead to airway obstruction, musculoskeletal alterations and functional deficits.
H. Naujokat, B. Möller, H. Terheyden, F. Birkenfeld, D. Caliebe, M. Krause, H. Fischer-Brandies, J. Wiltfang   +7 more
semanticscholar   +1 more source

Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome

American Journal of Medical Genetics. Part A, 2019
Beckwith‐Wiedemann syndrome (BWS) phenotype usually mitigates with age and data on adulthood are limited. Our study aims at reporting phenotype evolution and health issues in adulthood.
Andrea Gazzin, D. Carli, F. Sirchia, C. Molinatto, S. Cardaropoli, G. Palumbo, G. Zampino, G. Ferrero, A. Mussa   +8 more
semanticscholar   +1 more source

Prenatal imaging throughout gestation in Beckwith‐Wiedemann syndrome

Prenatal Diagnosis, 2019
Prenatal occurrence and timing of appearance of associated features in Beckwith‐Wiedemann syndrome (BWS) are unknown. We reviewed our BWS patients with serial fetal imaging and correlated these with postnatal findings.
H. Shieh, J. Estroff, C. Barnewolt, D. Zurakowski, Wen-Hann Tan, T. Buchmiller   +5 more
semanticscholar   +1 more source

Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing

Journal of Medical Genetics, 2020
Background Most cases of Beckwith-Wiedemann spectrum (BWSp) are diagnosed after birth and few studies evaluated the prenatal phenotype; here, we investigate these aspects in a large series of patients with BWSp.
D. Carli, C. Bertola, S. Cardaropoli, Valentina Pia Ciuffreda, Marta Pieretto, G. Ferrero, A. Mussa   +6 more
semanticscholar   +1 more source

[Beckwith-Wiedemann syndrome].

Nihon rinsho. Japanese journal of clinical medicine, 2000
Beckwith-Wiedemann syndrome(BWS) is one of the most common overgrowth syndrome and is believed that imprinted genes contribute to the phenotypes of syndrome. Embryonic tumors are observed in 7.5%-10.0% of BWS, so BWS could be classified in one of the familial cancer syndrome. We describe here the causative mechanisms of BWS, mechanisms of tumorigenesis
K, Yoshiura, N, Niikawa
openaire   +1 more source

Beckwith-Wiedemann Syndrome

Scottish Medical Journal, 1989
P, Galea, K, Goel
openaire   +2 more sources